J. Drabova

发表

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature

Z. Sedlacek, V. Moslerová, M. Kyncl, 2018, Molecular Cytogenetics.

Association of 17q24.2‐q24.3 deletions with recognizable phenotype and short telomeres

M. Trková, Z. Sedlacek, M. Kotrová, 2018, American journal of medical genetics. Part A.

Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing

M. Trková, Z. Sedlacek, Z. Zemanová, 2011, Cytogenetic and Genome Research.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

M. Trková, Z. Sedlacek, M. Havlovicová, 2014, Molecular Cytogenetics.

Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

Z. Sedlacek, E. Seemanová, M. Hancarova, 2015, American journal of medical genetics. Part A.

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Z. Sedlacek, A. Kurg, Katrin Mannik, 2014, Twin Research and Human Genetics.

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

N. Tommerup, Z. Sedlacek, Z. Zemanová, 2018, Human mutation.

A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15‐p16.1 microdeletion syndrome

Z. Sedlacek, A. Kurg, Katrin Mannik, 2013, American journal of medical genetics. Part A.

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

M. Macek, V. Moslerová, M. Havlovicová, 2018, European journal of medical genetics.

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

M. Trková, Z. Sedlacek, M. Vlčková, 2013, Gene.

Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers

Z. Sedlacek, M. Vlčková, M. Hancarova, 2018, Cytogenetic and Genome Research.

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

P. Seeman, A. Mészárosová, D. Šafka Brožková, 2020, Neuroscience Letters.

Chromosome 12q13.13 deletions involving the HOXC gene cluster: phenotype and candidate genes.

Z. Sedlacek, M. Havlovicová, M. Hancarova, 2013, European Journal of Medical Genetics.

Discovery of Long Non-Coding RNA MALAT1 Amplification in Precancerous Colorectal Lesions

V. Vymetálková, Kristyna Tomasova, P. Vodicka, 2022, International journal of molecular sciences.

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

M. Trková, Z. Sedlacek, M. Havlovicová, 2014, Molecular Cytogenetics.

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

M. Macek, A. Maver, M. Havlovicová, 2016, Clinical genetics.

Deletions of 9q21.3 including NTRK2 are associated with severe phenotype

Z. Sedlacek, M. Vlčková, M. Hancarova, 2015, American journal of medical genetics. Part A.

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature

Z. Sedlacek, V. Moslerová, M. Kyncl, 2018, Molecular Cytogenetics.

Array comparative genome hybridization in patients with developmental delay: two example cases.

Z. Sedlacek, P. Hedvičáková, M. Vlčková, 2012, New biotechnology.